Research Approaches to Improve the Care and Outcomes of People Living with Spina Bifida

项目/摘要 脊柱裂（SB）是最常见的永久致残性出生缺陷。仅在美国， 据估计，超过150，000人患有SB。鉴于SB护理的高度医疗复杂性，许多 患有SB的个体通常表现出多种合并症（例如，肠/膀胱脊髓栓系综合征 失禁、皮肤溃疡、认知缺陷等）。随后，作为成年人，他们往往有较低的健康相关的 生活质量下降，接受高等教育的机会减少，就业率较低。其中大部分- 成就可以追溯到早期的神经发育缺陷。然而，早期的风险因素 这些不良的神经发育结果仍然没有得到充分的理解。与此同时， 产前脊髓脊膜膨出修复的增殖及其相关的早产风险，需要 阐明胎儿修复对长期神经发育结果的影响已经变得比 史以来我们的早期研究比较微创胎儿（胎镜）手术与开放式子宫切开术产前 脊髓脊膜膨出修复，显示除了阴道足月分娩，那些谁是修复胎儿镜 证明与使用开放式修复的患者相比， 子宫切开术此外，国家脊柱裂患者登记处（NSBPR）的出版物 这表明在这个国家样本中可能存在一些种族/民族健康差异。这个目标 建议是调查与产前脊髓脊膜膨出修复相关的结果，同时调查 如果在接受后续护理方面存在基于种族/族裔的差异。在目标1中，我们将检查 胎儿脊髓脊膜膨出修补术的不同方法与神经外科结局的关系 确定最佳护理实践标准。在目标2中，我们将研究神经源性膀胱与膀胱功能障碍之间的关系。 自我管理、种族/民族和胎儿脊髓脊膜膨出修复，以促进最佳实践 膀胱扩张指南。最后，在目标3中，我们将评估 人种/种族和接受皮肤破裂预防或脊髓栓系综合征干预的顺序 识别并解决任何已识别的差异。我们希望这些研究将比较神经外科手术 在全国样本中，胎儿MMC修复方法的泌尿系统结局，并检查是否存在差异， 与接受干预和成果的关系。

PROJECT/SUMMARY ABSTRACT Spina bifida (SB) is the most common permanently disabling birth defect. In the United States alone, it is estimated that more than 150,000 individuals live with SB. Given the high medical complexity of SB care many individuals with SB often exhibit numerous comorbidities (e.g., tethered cord syndrome, bowel/bladder incontinence, skin ulcers, cognitive deficits, etc.). Subsequently as adults, they often have a lower health-related quality of life, participate less in higher education, and have lower rates of employment. Much of this under- attainment can be traced back to early neurodevelopmental deficits. However, the early risk factors contributing to these poor neurodevelopmental outcomes are still insufficiently understood. Concurrently, with the proliferation of prenatal myelomeningocele repair and its associated risk for premature birth, the need for elucidating the impact of fetal repair on long-term neurodevelopmental outcomes has become more urgent than ever. Our early studies comparing minimally invasive fetal (fetoscopic) surgery to open-hysterotomy prenatal myelomeningocele repair, show that in addition to vaginal term births, those who were repaired fetoscopically demonstrate comparable neurosurgical, motor, and urological outcomes to those repaired using the open- hysterotomy approach. Furthermore, National Spina Bifida Patient Registry (NSBPR) publications have demonstrated that some racial/ethnic health disparities may exist in this national sample. The goal of this proposal is to investigate the outcomes related to prenatal myelomeningocele repair and concurrently investigate if differences in the receipt of subsequent care exist based on race/ethnicity. In Aim 1, we will examine the relationship between different approaches to fetal myelomeningocele repair and neurosurgical outcomes in order to identify best practice standards of care. In Aim 2, we will examine the relationship between neurogenic bladder and self-management, race/ethnicity, and fetal myelomeningocele repair in order to promote best practice guidelines for bladder continence. Lastly in Aim 3, we will evaluate for disparities in the relationship between race/ethnicity and the receipt of intervention for skin breakdown prevention or tethered cord syndrome in order to identify and address any difference identified. We expect that these studies will compare the neurosurgical and urologic outcomes of fetal MMC repair approaches in a national sample, and examine if disparities exist in relation to the receipt of interventions and outcomes.